ArticleJournal of assisted reproduction and genetics2025
Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- Review
- Can Hormonal Therapy Improve the Outcomes of mTESE in Patients With Non-Obstructive Azoospermia?Andrology · 2026Article
- The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.Journal of human genetics · 2026Observational
- Review
- Single-cell RNA sequencing reveals immune-peritubular myoid cell crosstalk driving testicular interstitial fibrosis in idiopathic non-obstructive azoospermia.Cell & bioscience · 2026Article
- Compound heterozygous variants of the DMRTC2 gene are associated with non-obstructive azoospermia in a patient.Asian journal of andrology · 2026Article
- Telomeres, the nuclear lamina, and membrane remodeling: Orchestrating meiotic chromosome movements.The Journal of cell biology · 2025Review
- A focused evaluation of genetic and epigenetic contributions to common infertility conditions.Therapeutic advances in reproductive healthReview
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
backgroundNon-obstructive azoospermia (NOA) is considered one of the most severe forms of male infertility. Despite the limited range of testicular phenotypes, NOA exhibits considerable genetic heterogeneity. The aim of this study was to uncover the etiopathogenesis of NOA and provide insights into the outcomes of testicular sperm extraction (TESE). MATERIAL
methodTo elucidate the potential causes of testicular pathogenesis, a cohort of 61 patients was analyzed. The genetic etiology was assessed using our developed gene panel, based on genes with prior functional studies conducted specifically in the context of testicular characterization.
resultsOur analytical approach, built upon these findings, enabled us to explore the potential genetic causes of NOA and assess their relevance to TESE outcomes. A potential causal defect was identified in 14 genes across a total of 26 individuals (42%). Of these, three genes-MEIOB, TERB1, and USP26-had been previously described in men, while eight genes-SPO11, RBBP7, STS, RBMXL3, ZCCHC13, HUWE1, ESR1, and ABCD1-had been reported in prior studies. Additionally, three genes-CEP85, NAP1L3, and CENPI-had been previously described only in knockout (KO) phenotype studies, and this study represents the first identification of these genes in men.
conclusionInterestingly, the histological findings of meiotic arrest were strongly linked to genes involved in meiosis, reinforcing the clinical diagnosis of patients in this cohort. Additionally, our study underscores the importance of refining diagnostic strategies that focus on genes associated with testicular phenotypes, which could enhance the accuracy of TESE success predictions.
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